Male Fertility Screening 

It is estimated that 50% of cases of infertility are due to genetic defects.

Infertility in 1 out of 5 men is due to a genetic cause.


Which Men Are Tested for Male Infertility?

Any man who wants to know about the potential genetic risks of infertility before IVF or conception. Early knowledge and awareness will reduce subsequent costs, save time and save stress by giving you and your health care providers better preparation and options for achieving a healthy pregnancy.


Consult with your doctor about the benefits of fertility testing if you have experienced any of the following:

  • Known family history of fertility problems.
  • Low sperm count or abnormal sperm.
  • History of more than one miscarriage.

Medical company guidelines and recommendations

Many professional medical companies, including the American Society of Reproductive Medicine (ASRM), the American Congress of Obstetricians and Gynecologists (ACOG), and the American Urological Association (AUA) recommend fertile men and women to perform birth control.

What is included in the genetic test for male infertility?
  • Karyotype of Peripheral Blood
  • Y chromosome microarrays
  • Cystic Fibrosis 75%
  • Sperm DNA fragmentation
  • Sperm oxidative stress control


Each human has 46 chromosomes that contain all the genetic information needed for life, function and reproduce.
260514_YChromosome_1Some people have some rearrangements, deficiencies, duplications, and mosaics (a mixture of normal and non-cells) in their genetic material that may affect their reproductive ability, although they seem to be healthy.

Karyotype is a method of studying the structure and number of chromosomes in order to detect genetic causes of infertility.

In addition, small DNA fragments on the Y chromosome in men have been implicated in cases of oligospermia, teratospermia and even azoospermia. Their study is carried out by a separate screening molecular analysis of DNA by PCR for any microdeletions of Y chromosome.


Male Fertility Screening examines the 39 most common CFTR mutations, including standard mutations recommended by the American College of Medical Genetics (ACMG).

Alternatively it is possible to analyze the whole cystic fibrosis gene.

REF // Ferlin A. et al. (2014) New genetic markers for male infertility. Curr Opin Obstet Gynecol. 26:193-198.

Watson M. et al. (2004) Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med. 6:387-391.

Wosnitzer, M. (2014) Genetic evaluation of male infertility. Transl Andro Uro. 3:17

Blood Sampling

Genetic screening for Karyotype, Y chromosome microdeletions and cystic fibrosis requires a simple blood sampling from the hand. The answer is available in about 2-3 weeks after you receive your sample in the labs.



If you belong to the category of couples who have fertility problems and conventional screening (classic sperm count, sperm count, motility (speed) and morphology (shape)) is normal, there is now something new that you might have to discuss with your doctor about sperm testing.

This is the fragmentation of the sperm’s DNA, and that may explain why you’re not a parent yet. High levels of DNA fragmentation can be a factor in inhibiting a successful pregnancy, and no matter what fertility treatment is followed. Also, it is often not detected by the classic sperm diagram.

The appearance of high levels of sperm DNA fragmentation may be due to factors such as:

  • Smoking and exposure to environmental chemicals and the profession you are practicing (eg. vehicle drivers)
  • Men’s advanced age (> 50)
  • Infections, varicocele, chronic diseases such as diabetes, cancer
  • Diseases with high fever or local increase in testicular temperature (from laptops, jacuzzi)
  • Poor nutrition and obesity
  • Use of drugs and drugs
  • Oxidative stress of sperm

Sperm DNA damage has been found to be more common in infertile men and can affect reproductive outcomes in some couples, including those with miscarriage or idiopathic (unexplained) infertility.

What is sperm DNA fragmentation;

DNA carries the genetic material of humans and other organisms and consists of two polynucleotide chains – DNA helices – each nucleotide consisting of a nitrogenous base, a sugar and a phosphate group.

Sperm DNA fragmentation is the cleavage of one or both strands of DNA into the sperm chromosomes. Therefore, if this occurs in a part of the gene that is responsible for the development of the fetus and is not repaired, the result is a pregnancy that is not complete.

Test of sperm DNA fragmentation sperm

The test requires a small amount of sperm to be tested with some of the techniques available, such as Halosperm, Tunel and Comet. But what is considered a reference method is SCSA (sperm chromatin structure analysis). With the SCSA test, 5,000 individual spermatozoa per sample are counted on a high-precision flow cytometer.

The flow cytometer measures very fast (250 sperm / sec) with a high degree of “mechanical vision” (eliminating the subjectivity of the human factor), the biochemical behavior of the sperm chromatin after application of the method, giving reliable results.

Currently, SCSA is the only sperm / chromatin DNA test for which validated clinical interpretation criteria exist. The test measures in addition to the presence of DNA strand breaks and the percentage of sperm with protein abnormalities (% HDS and refers to sperm chromatin maturity. Some studies have shown no pregnancies if the HDS rate is above 36%.), which inhibit the success of pregnancy.

The test determines the percentage of spermatozoa with fragmented DNA, the degree of DNA damage and provides a DNA segmentation index (DFI), indicating the probability of sperm being involved in infertility problems.

In the process of natural conception and intrauterine insemination, rate:



  • Less than or equal to 15 percent DFI: Extremely good fertility
  • 15 percent to 25 percent DFI: Good fertility
  • Greater than 25 percent DFI: Poor fertility


What can you do to treat sperm DNA fragmentation?

The habits or measures that can be adopted by infertile men to reduce sperm fragmentation and increase fertility are:

  • Stop smoking.
  • Diet rich in antioxidants, because oxidative stress is the main culprit for “breaking” DNA.
  • Avoid some medicines like cortisone and SSRIs.
  • Screening for any urinary tract infections.
  • Healthy diet full of colorful fruits and vegetables.
  • Information from your doctor about vitamins and antioxidant supplements, such as vitamins C and E, coenzyme Q-10, and carnitine-containing supplements.


What is the state of oxidative stress of the sperm?

Sperm has a natural antioxidant capacity, which is directly related to the quality of the sperm. Situations such as a man’s age and overweight lifestyle can damage DNA and sperm function by causing oxidative stress to the sperm.

Sperm oxidative stress test MiOXSYS®

8b79eafeacbb38f08523867550f05a5a_XLOxidative stress control consists of:

  • Men over 40 under prenatal screening.
  • Aggressive lifestyle (eg smoking, exposure to toxic substances, nutrition, vigorous physical activity, lack of physical activity, etc.).
  • Men with pathological conditions such as reproductive tract infections (eg prostatitis) or oligoasthenospermia.
  • Couples with a history of six miscarriages or failed assisted reproductive efforts.

Semen sampling – Preparation
  • A small amount of semen is required for the MiOXSYS oxidative stress test and DNA fragmentation test.
  • Ejaculation every other day and abstinence 1 day before taking is necessary for 1 week before taking.
  • The semen sample should be delivered to the laboratory within one hour of its collection.
  • The results are available within 1 week of receiving your sample in the laboratories.

Complimentary Genetic Counselling


At Safembryo, we provide free genetic counseling before and after fertility testing. We are ready to answer your questions to ensure that the genetic test you have selected is appropriate and as easy as possible to understand.